ADCK4
- Known as:
- ADCK4
- Catalog number:
- 001189A
- Product Quantity:
- 250ul
- Category:
- -
- Supplier:
- ABM
- Gene target:
- ADCK4
Related genes to: ADCK4
- Gene:
- COQ8B NIH gene
- Name:
- coenzyme Q8B
- Previous symbol:
- ADCK4
- Synonyms:
- FLJ12229, COQ8
- Chromosome:
- 19q13.2
- Locus Type:
- gene with protein product
- Date approved:
- 2003-07-21
- Date modifiied:
- 2016-07-07
Related products to: ADCK4
Related articles to: ADCK4
- Monogenic causes are increasingly recognized in end-stage kidney disease (ESKD), but the real-world diagnostic efficacy of exome sequencing in unselected dialysis cohorts is still being defined. - Source: PubMed
Publication date: 2026/01/19
Liu Zhi-YingZhang Ya-LingLi YangHan Jing-FangSong Zhuo-RanZhang Jia-YiQu Ting-HuiXu RongZhang HongChen Xiao-LiZhou Xu-Jie - Coenzyme Q8B (COQ8B) nephropathy is an autosomal recessive hereditary disorder caused by primary coenzyme Q10 (CoQ10) deficiency. It manifests as a genetic steroid-resistant nephrotic syndrome (SRNS), typically of childhood-onset. CoQ10 supplementation is a treatment option; however, it is not always effective in an entire patient population, leading to end-stage kidney disease. Kidney transplantation (KTx) is an effective treatment option for genetic SRNS; however, living KTx within biologically related members is associated with increased risk of allograft failure in recipients and future kidney dysfunction in donors. Here, we present two successful cases of living kidney donations from heterozygous carrier parents to their siblings with COQ8B nephropathy. - Source: PubMed
Publication date: 2025/12/18
Morita KeisukeNakanishi RisaOgura KikunoShinzato TakahiroMatsuo KenTanaka SatoshiMatsumoto MinamiYamamoto ShinyaKitayama HirotsuguNagano ChinaNozu KandaiNagai Kojiro - Exome sequencing solved 26% of nephronophthisis cases, identifying nephropathy and extrarenal disease genes beyond classic ciliopathy panels. Exome sequencing uncovered GN and tubular nephropathy genes misdiagnosed as ciliopathy-associated nephropathy, underscoring diagnostic overlap in kidney diseases. Patients with nonciliary genetic variants may present with ciliopathy-like extrarenal symptoms, showing phenocopies in kidney ciliopathy diagnostics. - Source: PubMed
Publication date: 2025/12/04
Petzold FriederikeJeanpierre CécileChen XiaoyiMorinière VincentBenmerah AlexandreDorval GuillaumeSaei HassanHeidet LaurenceAntignac CorinneSaunier Sophie - Coenzyme Q10 synthesis disorder caused by COQ8B gene deficiency is among the most prevalent causes of end-stage renal disease (ESRD) in children, which usually presents as isolated kidney disease, with sporadic cases associated with extrarenal symptoms such as retinitis pigmentosa (RP). Through long-term follow-up of 26 renal transplant children with COQ8B variants at our center, it is observed that, despite favorable renal transplant outcomes, 23.1% of children experienced night blindness or other ocular symptoms. Nine children were recruited for systematic ophthalmic examination and found that three of them were definitely diagnosed with RP, and the remaining children had varying degrees of retinal abnormalities regardless of perceived ocular discomfort. Compared with kidney transplant children without this genetic variant, children with the COQ8B genetic variant had significantly worse ERG results, which was an important indicator for the early diagnosis of RP. No known RP-associated pathogenic gene mutations were identified in the WES data of these children upon screening. Transcriptome analysis suggested that the potential association between COQ8B gene mutations and RP was related to ATP synthesis, oxidative phosphorylation, and phototransduction pathways. This study was the first to propose that COQ8B gene deficiency leading to retinal disorders in kidney transplanted children is not sporadic. Coenzyme Q10 supplementation may have a protective effect on the retina after renal transplantation in children with COQ8B mutations, requiring further research and clinical attention. - Source: PubMed
Feng YonghuaFeng YiWang ZhigangLi WenjingZhu HaoweiLi ZhouFeng ChenghaoXu HongenFeng GuiwenZhang DiShang Wenjun - COQ8B nephropathy, a mitochondrial disorder caused by mutations in the gene, is a major pediatric genetic focal segmental glomerulosclerosis (GFSGS) etiology and stands out as one of the few treatable forms with good response to coenzyme Q10 (CoQ) supplementation. As the diagnosis and clinical experience of COQ8B nephropathy were predominantly in the pediatric population, the long-term efficacy of CoQ supplementation and its application in the adult-onset patients remains largely unknown. Here, we report three cases of adult-onset FSGS from unrelated families, all carrying the Chinese common mutation (c.737G > A; p.Ser246Asn) with divergent trajectories of renal function following CoQ supplementation initiated in different stages of renal dysfunction, providing valuable evidence on the implication of early disease diagnosis and prompt CoQ supplementation for the prognosis of adult patients affected with COQ8B nephropathy. - Source: PubMed
Publication date: 2025/05/13
Jin ShiShi YiqinLin PanLiu HongXu XialianDai XuantongJiang GengruDing XiaoqiangLin Fujun